Vogt-Koyanagi-Harada disease in a Native American population in Oklahoma.

PURPOSE: To describe the presentation, features, and outcomes of patients with Vogt-Koyanagi-Harada disease (VKH) seen by uveitis specialists in Oklahoma. METHODS: Clinical data were collected for 26 patients (52 eyes) diagnosed with VKH and seen between 1992 and 2018. Main outcome measures included rates of visual loss, ocular complications, and remission. RESULTS: There were 11 Native American (NA) patients (11/26, 42.3%) and 15 non-Natives (n-NA). NA VKH patients were significantly more likely to present at a younger age (18.6 years) than n-NA VKH patients (30.1 years) (p = 0.023). NA patients were less likely to have meningismus (0.00 vs. 42.9%; 0.048) or systemic symptoms (50.0% vs. 93.3%; p = 0.023) than n-NA patients, but more likely to develop cataracts (100.0% vs. 66.7%; p = 0.003). There were similar rates of macular edema, epiretinal membrane, subretinal fibrosis, and recurrent uveitis between the two groups. Oral corticosteroid use was similar between both groups (72.7% vs. 86.7%; p = 0.61). CONCLUSIONS: VKH may manifest with earlier disease course in NA patients than n-NA patients, particularly regarding ocular findings. However, NA patients were less likely to have systemic symptoms than n-NA patients.

Treatment of uncontrolled intraocular pressure secondary to uveal melanoma status post plaque radiotherapy with ab interno XEN gel stent implantation.

Purpose: To report treatment of uncontrolled intraocular pressure in a patient with uveal melanoma status post plaque radiotherapy with ab interno XEN gel stent implantation. Observations: A 21-year-old female with a history of iris and ciliary body melanoma underwent treatment with plaque radiotherapy with subsequent elevation of intraocular pressure refractory to maximum medical therapy. In order to control the pressure, ab interno XEN gel stent implantation with mitomycin C was recommended. Preoperatively, the patient was on four topical medications and oral acetazolamide with intraocular pressure of 39 mmHg by Goldmann applanation tonometry. The patient's intraocular pressure was reduced to 10 mmHg at her final postoperative visit on no medications. Visual acuity showed minimal degradation measuring 20/100 preoperatively and 20/150 eleven months after XEN gel stent implantation with VA improvement to 20/60 with refraction after cataract extraction at eighteen months. There were no postoperative complications and no recurrence or seeding of the uveal melanoma at follow up 18 months after her XEN gel stent implantation. Conclusions and Importance: Ab interno XEN gel stent implantation with mitomycin C may offer an effective method to control intraocular pressure in patients with refractory intraoperative pressure control following plaque radiotherapy treatment for uveal melanoma.

Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1).

Purpose: Mutations in the inosine monophosphate dehydrogenase 1 (IMPDH1) gene are a common cause of inherited retinal degeneration (IRD). Due to species- and tissue-dependent expression of IMPDH1, there are no appropriate models of human IMPDH1 disease. Therefore, a limited understanding remains of disease expression and rates of progression for IMPDH1-related IRD. Methods: We evaluated semiautomated kinetic and chromatic static perimetry, spectral-domain optical coherence tomography (SD-OCT), and ultra-wide field fundus images with autofluorescence in a cohort of 12 patients (ages 11-58 at first visit). Ten patients had longitudinal data for which rates of progression were estimated. Results: Visual acuities were relatively stable over time and the photoreceptors within the central retina remained intact. Perifoveal photoreceptor loss measured over a period of years coincided with visual fields, which were constricted and progressed over time in all patients. Rod sensitivity showed a similar pattern of defect to that of the kinetic perimetry and the autofluorescence ultra-wide field imaging. Full-field electroretinograms were severely reduced and the dark-adapted rod and mixed responses were extinguished at earlier visits than the light-adapted cone responses. Conclusions: There was variability in disease severity at the first visit, but results show that the peripheral retina is more susceptible to the deleterious consequences of an IMPDH1 mutation. Given the pattern of degeneration and the alternatively spliced isoforms of IMPDH1, potential interventions may consider targeting the periphery early in disease, modulating transcript expression, and/or preserving central vision at late stages of the disease. Translational Relevance: These results inform clinical prognosis and offer evidence strategies toward therapeutic intervention.